PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000280614	[[139936942, 139937325], [139964227, 139964497], [139965792, 139966906]]	[[139937135, 139937325], [139964227, 139964497], [139965792, 139966628]]
ENST00000515616	[[139964225, 139964497], [139965792, 139966259]]	None
NM_012118	[[139936912, 139937325], [139964227, 139964497], [139965792, 139967093]]	[[139937135, 139937325], [139964227, 139964497], [139965792, 139966628]]

Promoter

Chrom	Start	End	Description
chr4	139936905	139936944	CAGE_peak_1_at_CCRN4L_5end
chr4	139937032	139937054	CAGE_peak_2_at_CCRN4L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I139030	139030323	139031125	0.73	[{'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.34}, {'connected_gene': 'ELF2', 'score': 0.11}]
chr4	GH04I139020	139020094	139021411	0.56	[{'connected_gene': 'MGARP', 'score': 10.78}, {'connected_gene': 'NOCT', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.29}]
chr4	GH04I139027	139027759	139028848	0.62	[{'connected_gene': 'MGARP', 'score': 10.6}, {'connected_gene': 'ELF2', 'score': 5.02}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4	GH04I139156	139156417	139161123	0.8	[{'connected_gene': 'MAML3', 'score': 11.92}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'ELF2', 'score': 11.67}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.77}, {'connected_gene': 'GC04P139173', 'score': 0.39}]
chr4	GH04I139266	139266001	139267551	1.19	[{'connected_gene': 'NDUFC1', 'score': 10.26}, {'connected_gene': 'NOCT', 'score': 4.75}, {'connected_gene': 'RNU6-1074P', 'score': 0.39}, {'connected_gene': 'GC04M139257', 'score': 0.39}, {'connected_gene': 'MGARP', 'score': 0.39}]
chr4	GH04I139013	139013519	139017601	2.08	[{'connected_gene': 'NOCT', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 26.62}, {'connected_gene': 'LOC101927490', 'score': 5.16}, {'connected_gene': 'LOC105377448', 'score': 0.77}]
chr4	GH04I139040	139039785	139040019	0.39	[{'connected_gene': 'NOCT', 'score': 13.85}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NAA15', 'score': 1.3}, {'connected_gene': 'RNU6-531P', 'score': 0.37}, {'connected_gene': 'ELF2', 'score': 0.12}]
chr4	GH04I139039	139039068	139039552	0.28	[{'connected_gene': 'NOCT', 'score': 18.86}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'ELF2', 'score': 4.85}, {'connected_gene': 'RNU6-531P', 'score': 0.37}]
chr4	GH04I138967	138967085	138968200	1.11	[{'connected_gene': 'NOCT', 'score': 10.95}, {'connected_gene': 'LOC105377448', 'score': 10.95}, {'connected_gene': 'RAB33B', 'score': 6.57}, {'connected_gene': 'ENSG00000273247', 'score': 4.43}, {'connected_gene': 'GC04P138943', 'score': 0.34}]
chr4	GH04I138909	138909997	138912936	1.45	[{'connected_gene': 'NOCT', 'score': 4.62}, {'connected_gene': 'GC04M138907', 'score': 0.77}, {'connected_gene': 'ENSG00000250577', 'score': 0.39}, {'connected_gene': 'LOC105377448', 'score': 0.15}]
chr4	GH04I138963	138963446	138963745	0.25	[{'connected_gene': 'NOCT', 'score': 19.29}, {'connected_gene': 'LOC105377448', 'score': 12.88}, {'connected_gene': 'GC04P138943', 'score': 0.34}]
chr4	GH04I139188	139188002	139189829	1.59	[{'connected_gene': 'NOCT', 'score': 19.38}, {'connected_gene': 'PPP1R14BP3', 'score': 12.51}, {'connected_gene': 'MGARP', 'score': 11.07}, {'connected_gene': 'RNU6-1074P', 'score': 10.91}, {'connected_gene': 'ELF2', 'score': 6.84}, {'connected_gene': 'RAB33B', 'score': 4.57}, {'connected_gene': 'RN7SL311P', 'score': 0.77}, {'connected_gene': 'GC04P139201', 'score': 0.39}, {'connected_gene': 'GC04P139173', 'score': 0.37}]
chr4	GH04I138775	138775801	138776400	0.85	[{'connected_gene': 'NOCT', 'score': 6.64}, {'connected_gene': 'ENSG00000250501', 'score': 0.77}, {'connected_gene': 'GC04P138826', 'score': 0.23}]
chr4	GH04I139096	139096530	139096646	0.26	[{'connected_gene': 'ELF2', 'score': 24.67}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.64}, {'connected_gene': 'LOC105377448', 'score': 10.64}, {'connected_gene': 'RAB33B', 'score': 1.86}, {'connected_gene': 'GC04P139099', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]
chr4	GH04I139081	139081527	139085966	2.44	[{'connected_gene': 'ELF2', 'score': 633.26}, {'connected_gene': 'NAA15', 'score': 27.16}, {'connected_gene': 'NOCT', 'score': 12.61}, {'connected_gene': 'ENSG00000273247', 'score': 12.48}, {'connected_gene': 'LOC105377448', 'score': 11.29}, {'connected_gene': 'MGARP', 'score': 11.23}, {'connected_gene': 'RAB33B', 'score': 6.91}, {'connected_gene': 'H3F3AP6', 'score': 5.87}, {'connected_gene': 'GC04P139099', 'score': 0.37}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4	GH04I139175	139175485	139179242	2.53	[{'connected_gene': 'ELF2', 'score': 567.33}, {'connected_gene': 'NOCT', 'score': 13.28}, {'connected_gene': 'NDUFC1', 'score': 6.01}, {'connected_gene': 'RAB33B', 'score': 5.25}, {'connected_gene': 'GC04P139173', 'score': 0.77}, {'connected_gene': 'GC04P139186', 'score': 0.44}]
chr4	GH04I139018	139018137	139019982	0.63	[{'connected_gene': 'ELF2', 'score': 4.88}, {'connected_gene': 'NOCT', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.28}]
chr4	GH04I139163	139163601	139164000	0.81	[{'connected_gene': 'PPP1R14BP3', 'score': 12.56}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'LOC105377448', 'score': 10.43}, {'connected_gene': 'GC04P139173', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.44}, {'connected_gene': 'ELF2', 'score': 0.39}]
chr4	GH04I139151	139151881	139156008	1.13	[{'connected_gene': 'ENSG00000276396', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 17.88}, {'connected_gene': 'RNU6-1074P', 'score': 11.87}, {'connected_gene': 'MGARP', 'score': 11.29}, {'connected_gene': 'NOCT', 'score': 10.45}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'PPP1R14BP3', 'score': 0.28}]
chr4	GH04I139099	139099507	139099676	0.72	[{'connected_gene': 'GC04P139099', 'score': 550.77}, {'connected_gene': 'RN7SL382P', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 11.79}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.22}, {'connected_gene': 'LOC105377448', 'score': 10.21}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]